Canonical Allele Identifier: CA373997891
Gene: GNAQ HGNC NCBI

Linked Data

dbSNP Id: rs2118444404

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794576C>A , CM000671.2:g.77794576C>A GRCh38
NC_000009.11:g.80409492C>A , CM000671.1:g.80409492C>A GRCh37
NC_000009.10:g.79599312C>A NCBI36
NG_027904.2:g.241728G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.622G>T MANE Select ENSP00000286548.4:p.Gly208Cys
ENST00000286548.8:c.622G>T ENSP00000286548.4:p.Gly208Cys
NM_002072.4:c.622G>T NP_002063.2:p.Gly208Cys
XM_017014628.2:c.448G>T XP_016870117.1:p.Gly150Cys
NM_002072.5:c.622G>T MANE Select NP_002063.2:p.Gly208Cys